{"orpha":391320,"name":"East Texas bleeding disorder","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FV East Texas bleeding disorder","Factor V East Texas bleeding disorder"],"definition":"East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391320/","orphanet_url":"https://www.orpha.net/en/disease/detail/391320","names":{"fr":{"name":"Maladie hémorragique de l'est du Texas","synonyms":["Coagulopathie de l'est du Texas","Maladie hémorragique du FV de l'est du Texas","Maladie hémorragique du facteur V de l'est du Texas"],"definition":"Coagulopathie rare génétique caractérisée par une tendance aux ecchymoses (sans hémarthrose ou hématomes spontanés), une épistaxis, une ménorragie et des saignements excessifs après un traumatisme mineur ou une intervention chirurgicale. Les patients présentent un allongement des temps de prothrombine et/ou de céphaline activée, des taux normaux de tous les facteurs de coagulation et une activité normale de la protéine C."},"de":{"name":"Gerinnungsstörung vom Ost-Texanischen Typ","synonyms":["Faktor V Ost-Texas-Variante","Gerinnungsstörung, Faktor V-East-Texas"]},"es":{"name":"Trastorno de sangrado del este de Texas","synonyms":["Trastorno de sangrado FV del este de Texas","Trastorno de sangrado de factor V del este de Texas"],"definition":"Es un trastorno genético de la coagulación poco frecuente caracterizado por hematomas (sin hemartrosis ni hematomas espontáneos), epistaxis, menorragia y sangrado excesivo después de traumatismos menores y procedimientos quirúrgicos. Los afectados presentan un tiempo de protrombina prolongado y/o un tiempo de tromboplastina parcial activada también prolongado, con niveles normales de todos los factores de coagulación y actividad normal de la proteína C."},"it":{"name":"Disturbo emorragico del Texas dell'Est","synonyms":["Disturbo emorragico del fattore V del Texas dell'Est","Disturbo emorragico del FV del Texas dell'Est"],"definition":"Il disturbo emorragico del Texas dell'Est è un difetto genetico raro della coagulazione, caratterizzato da tendenza alle ecchimosi (in assenza di emartrosi o ematomi spontanei), epistassi, menorragia e abbondanti sanguinamenti dopo lievi traumi lievi e piccoli interventi chirurgici. I pazienti presentano un allungamento del tempo di protrombina e/o tromboplastina parziale attivata, livelli normali di tutti i fattori della coagulazione e una attività normale della proteina C."},"nl":{"name":"Oost-Texas-bloedingsstoornis","synonyms":["FV Oost-Texas-bloedingsstoornis","Factor V Oost-Texas-bloedingsstoornis"],"definition":"Oost-Texas-bloedingsstoornis is een zeldzame, genetische coagulatiestoornis die gekarakteriseerd wordt door makkelijke kneuzingen (zonder hemartrose of spontane hematomen), epistaxis, menorragie, en excessieve bloeding na een klein trauma en chirurgische procedures. Patiënten vertonen een verlengde protrombinetijd en/of geactiveerde partiële tromboplastinetijd, normale gehaltes van alle stollingsfactoren, en normale activiteit van proteïne C."},"pt":{"name":"Doença hemorrágica do leste do Texas","synonyms":["Doença hemorrágica do leste do Texas FV","Doença hemorrágica do leste do Texas factor V"]},"pl":{"name":"Skaza krwotoczna Zachodniego Teksasu","synonyms":["FV East Texas bleeding disorder","Factor V East Texas bleeding disorder"]},"cs":{"name":"East Texas krvácivá porucha","synonyms":["Východotexaská krvácivá porucha"]},"uk":{"name":"Хвороба кровотечі Східного Техасу","definition":"East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity."},"zh":{"name":"东德克萨斯出血性疾病","definition":"东德州出血障碍是一种罕见的遗传性凝血障碍，其特征是轻度创伤和外科手术后容易瘀伤(无关节积血或自发性血肿)、鼻出血、月经过多和出血过多。患者出现凝血酶原时间延长和/或活化部分凝血活酶时间延长，而所有凝血因子水平和蛋白C活性均正常。"},"tr":{"name":"Doğu Teksas kanama bozukluğu"}},"xrefs":[{"source":"OMIM","code":"605913","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B14.Z","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0011615","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750854","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":599519,"name":"Factor V short isoforms-related bleeding disorder","classifications":[156,194]}],"children":[],"genes":[{"symbol":"F5","name":"coagulation factor V","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23979162[PMID]","hgnc":"3542","ensembl":"ENSG00000198734","omim":"612309","loci":["1q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"23979162[PMID]_25634741[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25634741[PMID]"}],"phenotypes":null}